Variant report

Variant	esv3330914
Chromosome Location	chr19:21758547-21758931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21757543..21760677-chr19:21760984..21764499,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527531102	chr19:21758547-21758548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540715357	chr19:21758596-21758597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370840588	chr19:21758601-21758602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557793846	chr19:21758673-21758674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4809138	chr19:21758676-21758677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536488616	chr19:21758740-21758741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554902174	chr19:21758741-21758742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573205839	chr19:21758745-21758746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540618807	chr19:21758804-21758805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577961127	chr19:21758816-21758817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368051969	chr19:21758846-21758847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192772701	chr19:21758857-21758858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561049689	chr19:21758862-21758863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565102403	chr19:21758866-21758867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577190872	chr19:21758873-21758874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375050038	chr19:21758879-21758880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59365645	chr19:21758901-21758902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71178707	chr19:21758902-21758903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148312107	chr19:21758910-21758911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21752000-21769600	Weak transcription	Fetal Heart	heart
2	chr19:21752800-21766200	Weak transcription	Fetal Intestine Large	intestine
3	chr19:21753000-21768000	Weak transcription	Fetal Intestine Small	intestine
4	chr19:21753200-21762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:21756800-21762400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr19:21757000-21764400	Weak transcription	Pancreas	Pancrea
7	chr19:21757400-21762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:21757800-21759400	Weak transcription	Dnd41	blood

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